ACADL

ACADL or Acyl-CoA Dehydrogenase, Long Chain is an enzyme that in humans is encoded by the ACADL gene. It is involved in the breakdown of long-chain fatty acids, a process that provides energy for the body. Mutations in this gene can lead to a variety of metabolic disorders, including lipid metabolism disorders and fatty acid oxidation disorders.

Function[edit | edit source]

The ACADL enzyme is part of a family of enzymes known as Acyl-CoA dehydrogenases. These enzymes catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids and some amino acids. The enzyme encoded by this gene uses flavin adenine dinucleotide (FAD) as a cofactor to catalyze the initial step of the mitochondrial fatty acid beta-oxidation pathway.

Clinical significance[edit | edit source]

Mutations in the ACADL gene can lead to a deficiency in the ACADL enzyme, a condition known as ACADL deficiency or long-chain acyl-CoA dehydrogenase deficiency (LCAD deficiency). This is a rare inherited disorder that prevents the body from converting certain fats into energy. Symptoms can include hypoglycemia, muscle weakness, and cardiomyopathy.

Diagnosis and Treatment[edit | edit source]

Diagnosis of ACADL deficiency is typically made through a combination of clinical examination, biochemical testing, and molecular genetic testing. Treatment typically involves dietary management to avoid long periods of fasting, and in some cases, supplementation with medium-chain triglycerides.